ClinVar for Gene (Select 79738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336435	NM_024685.4(BBS10):c.686C>G (p.Pro229Arg)	BBS10 (P229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336318	NM_024685.4(BBS10):c.146G>T (p.Arg49Leu)	BBS10 (R49L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3260532	NM_024685.4(BBS10):c.1883T>C (p.Met628Thr)	BBS10 (M628T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244279	NC_000012.11:g.(?_76739593)_(76742138_?)del	BBS10	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3242542	NM_024685.3(BBS10):c.-151T>C	BBS10	Single nucleotide variant	Bardet-Biedl syndrome 10	GUncertain significance
Select item 3240871	NM_024685.4(BBS10):c.1890_1905del (p.Ser630fs)	BBS10 (S630fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240870	NM_024685.4(BBS10):c.192dup (p.Ala65fs)	BBS10 (A65fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240869	NM_024685.4(BBS10):c.2026_2029del (p.Thr676fs)	BBS10 (T676fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240868	NM_024685.4(BBS10):c.258_261del (p.Phe86fs)	BBS10 (F86fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240867	NM_024685.4(BBS10):c.640_653delinsA (p.Val214fs)	BBS10 (V214fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240866	NM_024685.4(BBS10):c.865del (p.Trp289fs)	BBS10 (W289fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240865	NM_024685.4(BBS10):c.103C>T (p.Gln35Ter)	BBS10 (Q35*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3240864	NM_024685.4(BBS10):c.1457_1458del (p.Tyr486fs)	BBS10 (Y486fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 3133153	NM_024685.4(BBS10):c.892A>G (p.Met298Val)	BBS10 (M298V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133151	NM_024685.4(BBS10):c.298A>G (p.Ile100Val)	BBS10 (I100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3133150	NM_024685.4(BBS10):c.143G>C (p.Ser48Thr)	BBS10 (S48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3031877	NM_024685.4(BBS10):c.1142A>G (p.Tyr381Cys)	BBS10 (Y381C)	Single nucleotide variant (missense variant)	BBS10-related disorder	GUncertain significance
Select item 3021634	NM_024685.4(BBS10):c.1005A>G (p.Ser335=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3016093	NM_024685.4(BBS10):c.171G>C (p.Ala57=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015827	NM_024685.4(BBS10):c.725_737del (p.Gln242fs)	BBS10 (Q242fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3015365	NM_024685.4(BBS10):c.1399del (p.Arg467fs)	BBS10 (R467fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3002102	NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)	BBS10 (S680L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 3001914	NM_024685.4(BBS10):c.2062C>T (p.Leu688=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3000653	NM_024685.4(BBS10):c.1173A>G (p.Ala391=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2998391	NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)	BBS10 (E556G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2985410	NM_024685.4(BBS10):c.1582T>C (p.Leu528=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2981404	NM_024685.4(BBS10):c.1912T>C (p.Leu638=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2979793	NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)	BBS10 (L562V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2976814	NM_024685.4(BBS10):c.315G>A (p.Lys105=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2969701	NM_024685.4(BBS10):c.1618T>C (p.Leu540=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2966633	NM_024685.4(BBS10):c.1623C>T (p.Leu541=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2955555	NM_024685.4(BBS10):c.165G>A (p.Leu55=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954921	NM_024685.4(BBS10):c.135G>C (p.Val45=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2954595	NM_024685.4(BBS10):c.1041T>G (p.Gly347=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2918912	NM_024685.4(BBS10):c.969A>C (p.Ala323=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2914305	NM_024685.4(BBS10):c.912G>A (p.Gln304=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2913894	NM_024685.4(BBS10):c.933T>C (p.Ser311=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2910031	NM_024685.4(BBS10):c.1308C>G (p.Thr436=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2905771	NM_024685.4(BBS10):c.894_897dup (p.His300fs)	BBS10 (H300fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2902593	NM_024685.4(BBS10):c.1269A>G (p.Gln423=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2902400	NM_024685.4(BBS10):c.197+20T>A	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2897972	NM_024685.4(BBS10):c.816A>G (p.Gly272=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2887353	NM_024685.4(BBS10):c.663G>A (p.Leu221=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2881985	NM_024685.4(BBS10):c.1698T>C (p.Asn566=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2874829	NM_024685.4(BBS10):c.2061A>G (p.Leu687=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2868773	NM_024685.4(BBS10):c.1548A>C (p.Thr516=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2868626	NM_024685.4(BBS10):c.162C>T (p.Leu54=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2866598	NM_024685.4(BBS10):c.264C>A (p.Ile88=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2864720	NM_024685.4(BBS10):c.496dup (p.Cys166fs)	BBS10 (C166fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2864451	NM_024685.4(BBS10):c.483dup (p.Glu162fs)	BBS10 (E162fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2864401	NM_024685.4(BBS10):c.1828T>C (p.Leu610=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2864389	NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)	BBS10 (S231*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2863125	NM_024685.4(BBS10):c.534T>C (p.Phe178=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2862122	NM_024685.4(BBS10):c.843A>C (p.Ala281=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2861648	NM_024685.4(BBS10):c.171G>A (p.Ala57=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2859486	NM_024685.4(BBS10):c.1257A>G (p.Lys419=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2851159	NM_024685.4(BBS10):c.1293T>C (p.Asn431=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2848859	NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)	BBS10 (Q192P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2847991	NM_024685.4(BBS10):c.414A>C (p.Thr138=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2846053	NM_024685.4(BBS10):c.198-17A>G	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2840963	NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)	BBS10 (S150fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2839480	NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)	BBS10 (L540*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2838217	NM_024685.4(BBS10):c.1264del (p.Arg422fs)	BBS10 (R422fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2836922	NM_024685.4(BBS10):c.198-8T>C	BBS10	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2836688	NM_024685.4(BBS10):c.12T>C (p.Ser4=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2836481	NM_024685.4(BBS10):c.801T>G (p.Leu267=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2832924	NM_024685.4(BBS10):c.1929C>A (p.Val643=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2831011	NM_024685.4(BBS10):c.1224A>G (p.Glu408=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2830310	NM_024685.4(BBS10):c.1542A>C (p.Thr514=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2826628	NM_024685.4(BBS10):c.105A>G (p.Gln35=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2825468	NM_024685.4(BBS10):c.198G>A (p.Arg66=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2825351	NM_024685.4(BBS10):c.152dup (p.Gly52fs)	BBS10 (G52fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2824899	NM_024685.4(BBS10):c.198-7del	BBS10	Deletion (intron variant)	Bardet-Biedl syndrome	GBenign
Select item 2823180	NM_024685.4(BBS10):c.1338dup (p.Ile447fs)	BBS10 (I447fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2821470	NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)	BBS10 (N605*)	Duplication (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2812989	NM_024685.4(BBS10):c.2004T>C (p.Asn668=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2811618	NM_024685.4(BBS10):c.597C>T (p.Phe199=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2803064	NM_024685.4(BBS10):c.1167A>G (p.Thr389=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2803002	NM_024685.4(BBS10):c.197G>A (p.Arg66Lys)	BBS10 (R66K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2802252	NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)	BBS10 (R95T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2797989	NM_024685.4(BBS10):c.2106C>T (p.Asp702=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2796987	NM_024685.4(BBS10):c.1953G>A (p.Lys651=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2792748	NM_024685.4(BBS10):c.1599A>G (p.Leu533=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2786393	NM_024685.4(BBS10):c.1317A>G (p.Gln439=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2782252	NM_024685.4(BBS10):c.1683T>C (p.Asn561=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2778231	NM_024685.4(BBS10):c.684T>C (p.Leu228=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2773254	NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)	BBS10 (Q139*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 2773187	NM_024685.4(BBS10):c.702G>A (p.Arg234=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2770027	NM_024685.4(BBS10):c.813T>C (p.Ser271=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2769211	NM_024685.4(BBS10):c.600G>A (p.Lys200=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2766918	NM_024685.4(BBS10):c.1716C>T (p.Ser572=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2758776	NM_024685.4(BBS10):c.1392A>G (p.Ser464=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2757588	NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)	BBS10 (Y658fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2757584	NM_024685.4(BBS10):c.246T>G (p.Gly82=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2753969	NM_024685.4(BBS10):c.1515G>C (p.Pro505=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2752628	NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)	BBS10 (G238fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2751799	NM_024685.4(BBS10):c.1532dup (p.Thr512fs)	BBS10 (T512fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2747772	NM_024685.4(BBS10):c.1641T>A (p.Ala547=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign

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